Discovery set | Validation set | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNP | Position (bp,hg19) | Function | Gene | Amino acid change | Variation | Case MAF (N=97) | Control MAF (N=7321) | Fisher's p value | OR (95% CI) | FDR | Case MAF (N=81) | Control MAF (N=3806) | Fisher's p value | OR (95% CI) | Meta- analysis p value |
rs6930777 | 32 351 566 | Intergenic | C6orf10, HCG23 | – | C/T | 0.23 | 0.12 | 6.8E-06 | 2.3 (1.6 to 3.2) | 0.28 | – | – | – | – | – |
rs4248166 | 32 366 421 | Intronic | BTNL2 | – | T/C | 0.30 | 0.18 | 1.4E-05 | 2.0 (1.5 to 2.8) | 0.38 | 0.25 | 0.17 | 0.013 | 1.6 (1.1 to 2.3) | 8.3E-07 |
rs1049056 | 32 634 369 | Exonic | HLA-DQB1 | A6S | C/A | 0.32 | 0.16 | 1.8E-07 | 2.4 (1.8 to 3.2) | 0.03 | – | – | – | – | – |
rs13192471 | 32 671 103 | Intergenic | HLA-DQB1, HLA-DQA2 | – | T/C | 0.29 | 0.14 | 8.4E-08 | 2.5 (1.8 to 3.4) | 0.02 | 0.23 | 0.14 | 0.0038 | 1.8 (1.2 to 2.6) | 1.9E-09 |
rs1794275 | 32 671 248 | Intergenic | HLA-DQB1, HLA-DQA2 | – | G/A | 0.34 | 0.17 | 1.8E-08 | 2.5 (1.8 to 3.4) | 0.007 | 0.23 | 0.17 | 0.031 | 1.5 (1.0 to 2.2) | 3.3E-09 |
rs2857106 | 32 787 570 | Intergenic | HLA-DOB, TAP2 | – | T/C | 0.33 | 0.20 | 1.4E-05 | 2 (1.5 to 2.7) | 0.38 | 0.28 | 0.19 | 0.0051 | 1.7 (1.2 to 2.4) | 3.4E-07 |
FDR, false discovery rate; MAF, minor allele frequency; N, number of cases or controls.